Sudden cardiac death: the need of a precise diagnosis at autopsy

31 Aug 2010

This session was devoted to the need to achieve a precise diagnosis of sudden death (SD) through postmortem examination.

William McKenna from London presented the spectrum of diseases at risk of SD. In the young they are genetic in origin from 22% to 53% with various penetrance. History and ECG are then essential to identify individuals at risk. Since SD is potentially preventable, there is a need for national strategies, employing diagnostic criteria, gene mutation analysis, genotype-phenotype correlations, risk stratification and therapy, including ICD implantation.

Patrick Gallagher from Southampton presented the guidelines on how to perform autopsy from the Association for European Cardiovascular Pathology. The aim of the autopsy is to establish whether SD was cardiac or non cardiac and the precise nature of the cardiac disease, whether inherited or not, by employing gross, histology, toxicology and molecular tools. At present, 30% of postmortem reports are poor, especially those in young SD victims. You have to accept grades of certainty and gray zones, like coronary artery narrowing without thrombosis and without recent or old myocardial infarction.

Cristina Basso from Padua emphasized that the heart may be normal in up to 20% of cardiac SD cases. A thorough histological examination should rule out myocarditis. Viral etiology may be established by PCR and RT-PCR. In the absence of myocarditis, ion channel genetic diseases should be taken into consideration and frozen tissue sampling of the spleen is mandatory to extract DNA and perform genetic mutation analysis, also following the indications of the ECG of the individual or first degree relatives.

Guenter Breithardt from Muenster, Germany, underlined the importance of the final postmortem diagnosis to establish the mechanism of SD, whether arrhythmic or non-arrhythmic. When autopsy is negative, even after histology, by exclusion, a hereditary disease is highly probable, so that management of family members is mandatory, including genetic testing of both the victim and the family members. Molecular genetic analysis facilitates the identification of the disease carriers in the family. This procedure raises crucial problems in terms of availability, costs as well as legal implication of genetic analysis.

Conclusion:

In conclusion, autopsy is useful and necessary. It may explain or not the SD. If SD remains unexplained, primary inherited arrhythmias are highly probable and genetic investigation is mandatory. The use of standardized postmortem protocols in SD cases is strongly recommended.

References

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SessionTitle:

Sudden cardiac death: the need of a precise diagnosis at autopsy

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.